Varaico: Literature-Extracted Genetic Variants

NOTCH2

1,480 papers

RefSeq Summary

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal ...

Pfam Domains

EGFaa 68–100UCSCEGF-like domain

EGFaa 109–141UCSCEGF-like domain

EGFaa 148–178UCSCEGF-like domain

EGF_CAaa 182–221UCSCCalcium-binding EGF domain

hEGFaa 269–290UCSCHuman growth factor-like EGF

EGF_CAaa 298–338UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 2

HGNC Previous Names

Notch (Drosophila) homolog 2; Notch homolog 2 (Drosophila); notch 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_024408.4

p.Q2223*

c.6667C>T

Surrounding Variants

1 paper

NM_024408.4

p.Q2223R

c.6668A>G

1 paper

NM_024408.4

p.S2222C

c.6664A>T

1 paper

NM_024408.4

p.V2221E

c.6662T>A

1 paper

NM_024408.4

p.V2221fs

c.6661_6662fs

1 paper

NM_024408.4

p.S2220*

c.6659C>G

2 papers

NM_024408.4

p.P2219delFs

c.6657delG

1 paper

NM_024408.4

p.S2226F

c.6677C>T

1 paper

NM_024408.4

p.P2219fs

c.6655_6656fs

1 paper

NM_024408.4

p.P2219S

c.6655C>T

2 papers

NM_024408.4

p.P2219fs

c.6655_6656fs

1 paper

NM_024408.4

p.H2227insFs

c.6679dupC

1 paper

NM_024408.4

p.L2225_S2226del2

c.6673_6677del6